Current Treatment and Management of Pyridoxine-Dependent Epilepsy

Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	van Karnebeek, Clara D. M. [verfasserIn] Jaggumantri, Sravan [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	Metabolic epilepsy Vitamin B6 ALDH7A1 Antiquitin (ATQ) Diet Lysine Arginine

Übergeordnetes Werk:	Enthalten in: Current treatment options in neurology - Philadelphia, Pa. : Current Science Inc., 1999, 17(2015), 2 vom: 03. Feb.
Übergeordnetes Werk:	volume:17 ; year:2015 ; number:2 ; day:03 ; month:02

Links:	Volltext

DOI / URN:	10.1007/s11940-014-0335-0

Katalog-ID:	SPR023073047

Internformat


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520			\|a Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.
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author_variant	k c d m v kcdm kcdmv s j sj
matchkey_str	article:15343138:2015----::urntetetnmngmnoprdxnd
hierarchy_sort_str	2015
bklnumber	44.90
publishDate	2015
allfields	10.1007/s11940-014-0335-0 doi (DE-627)SPR023073047 (SPR)s11940-014-0335-0-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl van Karnebeek, Clara D. M. verfasserin aut Current Treatment and Management of Pyridoxine-Dependent Epilepsy 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium. Metabolic epilepsy (dpeaa)DE-He213 Vitamin B6 (dpeaa)DE-He213 ALDH7A1 (dpeaa)DE-He213 Antiquitin (ATQ) (dpeaa)DE-He213 Diet (dpeaa)DE-He213 Lysine (dpeaa)DE-He213 Arginine (dpeaa)DE-He213 Jaggumantri, Sravan verfasserin aut Enthalten in Current treatment options in neurology Philadelphia, Pa. : Current Science Inc., 1999 17(2015), 2 vom: 03. Feb. (DE-627)345859839 (DE-600)2076603-8 1534-3138 nnns volume:17 year:2015 number:2 day:03 month:02 https://dx.doi.org/10.1007/s11940-014-0335-0 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 17 2015 2 03 02
spelling	10.1007/s11940-014-0335-0 doi (DE-627)SPR023073047 (SPR)s11940-014-0335-0-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl van Karnebeek, Clara D. M. verfasserin aut Current Treatment and Management of Pyridoxine-Dependent Epilepsy 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium. Metabolic epilepsy (dpeaa)DE-He213 Vitamin B6 (dpeaa)DE-He213 ALDH7A1 (dpeaa)DE-He213 Antiquitin (ATQ) (dpeaa)DE-He213 Diet (dpeaa)DE-He213 Lysine (dpeaa)DE-He213 Arginine (dpeaa)DE-He213 Jaggumantri, Sravan verfasserin aut Enthalten in Current treatment options in neurology Philadelphia, Pa. : Current Science Inc., 1999 17(2015), 2 vom: 03. Feb. (DE-627)345859839 (DE-600)2076603-8 1534-3138 nnns volume:17 year:2015 number:2 day:03 month:02 https://dx.doi.org/10.1007/s11940-014-0335-0 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 17 2015 2 03 02
allfields_unstemmed	10.1007/s11940-014-0335-0 doi (DE-627)SPR023073047 (SPR)s11940-014-0335-0-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl van Karnebeek, Clara D. M. verfasserin aut Current Treatment and Management of Pyridoxine-Dependent Epilepsy 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium. Metabolic epilepsy (dpeaa)DE-He213 Vitamin B6 (dpeaa)DE-He213 ALDH7A1 (dpeaa)DE-He213 Antiquitin (ATQ) (dpeaa)DE-He213 Diet (dpeaa)DE-He213 Lysine (dpeaa)DE-He213 Arginine (dpeaa)DE-He213 Jaggumantri, Sravan verfasserin aut Enthalten in Current treatment options in neurology Philadelphia, Pa. : Current Science Inc., 1999 17(2015), 2 vom: 03. Feb. (DE-627)345859839 (DE-600)2076603-8 1534-3138 nnns volume:17 year:2015 number:2 day:03 month:02 https://dx.doi.org/10.1007/s11940-014-0335-0 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 17 2015 2 03 02
allfieldsGer	10.1007/s11940-014-0335-0 doi (DE-627)SPR023073047 (SPR)s11940-014-0335-0-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl van Karnebeek, Clara D. M. verfasserin aut Current Treatment and Management of Pyridoxine-Dependent Epilepsy 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium. Metabolic epilepsy (dpeaa)DE-He213 Vitamin B6 (dpeaa)DE-He213 ALDH7A1 (dpeaa)DE-He213 Antiquitin (ATQ) (dpeaa)DE-He213 Diet (dpeaa)DE-He213 Lysine (dpeaa)DE-He213 Arginine (dpeaa)DE-He213 Jaggumantri, Sravan verfasserin aut Enthalten in Current treatment options in neurology Philadelphia, Pa. : Current Science Inc., 1999 17(2015), 2 vom: 03. Feb. (DE-627)345859839 (DE-600)2076603-8 1534-3138 nnns volume:17 year:2015 number:2 day:03 month:02 https://dx.doi.org/10.1007/s11940-014-0335-0 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 17 2015 2 03 02
allfieldsSound	10.1007/s11940-014-0335-0 doi (DE-627)SPR023073047 (SPR)s11940-014-0335-0-e DE-627 ger DE-627 rakwb eng 610 ASE 44.90 bkl van Karnebeek, Clara D. M. verfasserin aut Current Treatment and Management of Pyridoxine-Dependent Epilepsy 2015 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium. Metabolic epilepsy (dpeaa)DE-He213 Vitamin B6 (dpeaa)DE-He213 ALDH7A1 (dpeaa)DE-He213 Antiquitin (ATQ) (dpeaa)DE-He213 Diet (dpeaa)DE-He213 Lysine (dpeaa)DE-He213 Arginine (dpeaa)DE-He213 Jaggumantri, Sravan verfasserin aut Enthalten in Current treatment options in neurology Philadelphia, Pa. : Current Science Inc., 1999 17(2015), 2 vom: 03. Feb. (DE-627)345859839 (DE-600)2076603-8 1534-3138 nnns volume:17 year:2015 number:2 day:03 month:02 https://dx.doi.org/10.1007/s11940-014-0335-0 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2070 GBV_ILN_2086 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2116 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 44.90 ASE AR 17 2015 2 03 02
language	English
source	Enthalten in Current treatment options in neurology 17(2015), 2 vom: 03. Feb. volume:17 year:2015 number:2 day:03 month:02
sourceStr	Enthalten in Current treatment options in neurology 17(2015), 2 vom: 03. Feb. volume:17 year:2015 number:2 day:03 month:02
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Metabolic epilepsy Vitamin B6 ALDH7A1 Antiquitin (ATQ) Diet Lysine Arginine
dewey-raw	610
isfreeaccess_bool	false
container_title	Current treatment options in neurology
authorswithroles_txt_mv	van Karnebeek, Clara D. M. @@aut@@ Jaggumantri, Sravan @@aut@@
publishDateDaySort_date	2015-02-03T00:00:00Z
hierarchy_top_id	345859839
dewey-sort	3610
id	SPR023073047
language_de	englisch
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author	van Karnebeek, Clara D. M.
spellingShingle	van Karnebeek, Clara D. M. ddc 610 bkl 44.90 misc Metabolic epilepsy misc Vitamin B6 misc ALDH7A1 misc Antiquitin (ATQ) misc Diet misc Lysine misc Arginine Current Treatment and Management of Pyridoxine-Dependent Epilepsy
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topic_title	610 ASE 44.90 bkl Current Treatment and Management of Pyridoxine-Dependent Epilepsy Metabolic epilepsy (dpeaa)DE-He213 Vitamin B6 (dpeaa)DE-He213 ALDH7A1 (dpeaa)DE-He213 Antiquitin (ATQ) (dpeaa)DE-He213 Diet (dpeaa)DE-He213 Lysine (dpeaa)DE-He213 Arginine (dpeaa)DE-He213
topic	ddc 610 bkl 44.90 misc Metabolic epilepsy misc Vitamin B6 misc ALDH7A1 misc Antiquitin (ATQ) misc Diet misc Lysine misc Arginine
topic_unstemmed	ddc 610 bkl 44.90 misc Metabolic epilepsy misc Vitamin B6 misc ALDH7A1 misc Antiquitin (ATQ) misc Diet misc Lysine misc Arginine
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title	Current Treatment and Management of Pyridoxine-Dependent Epilepsy
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title_full	Current Treatment and Management of Pyridoxine-Dependent Epilepsy
author_sort	van Karnebeek, Clara D. M.
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title_sort	current treatment and management of pyridoxine-dependent epilepsy
title_auth	Current Treatment and Management of Pyridoxine-Dependent Epilepsy
abstract	Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.
abstractGer	Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.
abstract_unstemmed	Opinion statement Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. Characterized by recurrent seizures in the prenatal, neonatal, and/or postnatal periods that are resistant to conventional anti-epileptic drugs, PDE is responsive to pharmacological dosages of pyridoxine. Presently, however, there are no clear dose recommendations for long-term treatment. While pyridoxine supplementation is the first line of treatment and should be initiated in all confirmed PDE patients at an early age, various other treatment strategies are emerging. These include a lysine-restricted diet and arginine fortification. These will be discussed in light of current evidence, together with recommendations for best management of patients with this rare but treatable metabolic epilepsy, and future research and collaborative efforts, including the International PDE Consortium.
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container_issue	2
title_short	Current Treatment and Management of Pyridoxine-Dependent Epilepsy
url	https://dx.doi.org/10.1007/s11940-014-0335-0
remote_bool	true
author2	Jaggumantri, Sravan
author2Str	Jaggumantri, Sravan
ppnlink	345859839
mediatype_str_mv	c
isOA_txt	false
hochschulschrift_bool	false
doi_str	10.1007/s11940-014-0335-0
up_date	2024-07-03T16:41:14.535Z
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